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Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

S-adenosylmethionine (SAM) is the predominant methyl group donor and has a large spectrum of target substrates. As such, it is essential for nearly all biological methylation reactions. SAM is synthesized by methionine adenosyltransferase from methionine and ATP in the cytoplasm and subsequently dis...

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Detalles Bibliográficos
Autores principales: Kishita, Yoshihito, Pajak, Aleksandra, Bolar, Nikhita Ajit, Marobbio, Carlo M.T., Maffezzini, Camilla, Miniero, Daniela V., Monné, Magnus, Kohda, Masakazu, Stranneheim, Henrik, Murayama, Kei, Naess, Karin, Lesko, Nicole, Bruhn, Helene, Mourier, Arnaud, Wibom, Rolf, Nennesmo, Inger, Jespers, Ann, Govaert, Paul, Ohtake, Akira, Van Laer, Lut, Loeys, Bart L., Freyer, Christoph, Palmieri, Ferdinando, Wredenberg, Anna, Okazaki, Yasushi, Wedell, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667130/
https://www.ncbi.nlm.nih.gov/pubmed/26522469
http://dx.doi.org/10.1016/j.ajhg.2015.09.013